Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3638371010 | Dysmorphism, cleft palate, loose skin syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3638375018 | Facial dysmorphism, cleft palate, loose skin syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3638376017 | Facial dysmorphism, cleft palate, loose skin syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3638372015 | A rare genetic developmental defect during embryogenesis with characteristics of severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum and mixed hearing loss. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, cleft palate, loose skin syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Developmental failure of fusion | false | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Facial dysmorphism, cleft palate, loose skin syndrome | Is a | Cleft palate | true | Inferred relationship | Some | ||
Facial dysmorphism, cleft palate, loose skin syndrome | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Facial dysmorphism, cleft palate, loose skin syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Developmental failure of fusion | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Palatal structure | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, cleft palate, loose skin syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set